The Science Journal of the American Association for Respiratory Care

2008 OPEN FORUM Abstracts


Valerie F. Naegele1, James J. Barnett2

Background: The hereditary disorder alpha-1 antitrypsin (AAT) deficiency, which increases the risk of early-onset emphysema, is underrecognized. Only ~5000 of the estimated 100,000 individuals with AAT deficiency in the U.S. have been diagnosed. Without diagnosis, they are unable to receive appropriate management and medication, and the ATS has recommended that all symptomatic individuals with COPD are tested for AAT deficiency. In the course of their everyday provision of respiratory care, RTs can play a key role in increasing testing. This report describes an algorithm that has been developed at our medical centers as an educational tool to alert RTs when to suspect AAT deficiency and how to distinguish the disorder from regular or nonhereditary COPD.

The algorithm consists of a process chart that first sets out the conditions that should prompt suspicion of AAT deficiency (emphysema regardless of smoking history; family history of breathing problems). The chart then shows the procedures required for carrying out a test (free test kits are available and results are ready in 2-5 weeks). In the case of a positive test, the chart contains a checklist of items that helps to guide RTs in their further role of providing information and care to the patient (referral for further testing; explaining the hereditary nature of the disorder and risk factors such as smoking; pulmonary rehabilitation; augmentation therapy and other medication).

Over the past year, we have tested 38 individuals from our pulmonary rehabilitation programs and Better Breathers' Clubs at Oceanside and Mission Viejo, CA. Four individuals who were heterozygous for AAT deficiency were detected. Family members are being tested and followed up. Nationally in the U.S., targeted testing results are showing that approximately one in 10 tests yields a Z (deficient) allele.

The application of the algorithm has resulted in the detection of individuals carrying genetic variants for AAT deficiency. The use of this algorithmic approach is recommended to RT colleagues in order to increase the early detection of AAT deficiency and thereby more effectively manage our patients with the disorder. Smoking cessation, exercise, and proper medication are fundamental to the management of all COPD patients. The program can be contained within a flow chart and displayed in the RT's office.